Amyotrophic Lateral Sclerosis

By: Lynette Helminen

Amyotrophic lateral sclerosis

ALS is also called Lou Gehrigs
disease after a professional
baseball player who was
diagnosed with the disease.
Copstead and Banasik (2013),
define ALS as a progressive
degenerative disease affecting
both the upper and the lower
motor neurons characterized by
muscle wasting and atrophy of
the hands, arms, and legs (p.
935).

Risk Factors
Heredity: 5-10% of cases are inherited.
Age/sex: It is most common between 40-60, and slightly
more so in men.
Military veterans especially of Persian Gulf: This is possibly
due to environmental factors during war.
Environmental Factors: Smoking is a probable cause, and
some unproven beliefs are lead, chemicals used for
agriculture, viral infections, excessive lymphocyte disorders,
and physical prowess. (Copstead & Banasik, 2013).

Disease Process

(Kasarkis,
2012)

Muscle cells lose their nourishment

because the anterior horn of both
upper (sends messages from brain
to spinal cord) and lower (sends
messages from spinal cord to
muscles) motor nerves on the
lateral aspect of the spinal cord,
where corticospinal tracts are
located, become hardened and
scarred. Over time, the neurons
eventually degenerate causing the
muscles to atrophy, due to lack of
stimulation. (Kids Health, 2014)

Etiology
Although the exact etiology is unknown, there are a few factors believed to be a
cause.
Gene mutation: 4 genetic mutations have been found, however most emphasis is
on mutations to SOD1 (codes the free-radical scavenging enzyme) believed to
cause apoptosis, also linked with oxidative stress, due to damage from oxygen
free radicals.
There are thoughts it is possibly caused by a slow virus, dysfunctional
mitochondria, and defective axonal transport. (Copstead & Banasik, 2013).
Immune response: Immune system attacks normal cells leading to death.
Protein Mishandling: Gradual accumulation of abnormal forms in nerve cells,
leading to aggregation and death.
Chemical imbalance: Higher levels of glutamate (a neurotransmitter) have been
discovered, and it is believed to be toxic to nerve cells. (Mayo Clinic, 2014).

Clinical Manifestations
75-80% begins in limbs often on dominant side, causing
tripping or stumbling while walking, foot drop with slapping
gait, muscle cramps, arm twitching, weakness in legs, feet,
hands or ankles, and difficulty maintaining posture.
20-25% begin with bulbar symptoms like dysphagia which can
cause aspiration, slurring and slowness of speech, nasally
voice, drooling due to excessive saliva and poor lip control.
Dyspnea occurs when the diaphragm and intercostal muscles
(and other accessory respiratory muscles) become affected.
Lower motor involvement affects tongue and limbs, while
upper motor involvement tends to lead to spasms, leading to
immobility, hyperreflexia ,and stiffness.
With progression, muscles become more atrophied and
combined with spasms, often cause immobility leading to joint
contractures.
(Armon, 2014)

(Armon, 2014)

Diagnostics
Since ALS is difficult to diagnose, diagnosis is based on signs and
symptoms, along with tests to rule out other diseases like Multiple
Sclerosis, brain or spinal tumors, HIV, or Lymes disease. Medical
history is used for age/sex, exposure to certain chemicals, and heredity.
Tests performed often include electromyography to test electrical
activity of muscles during rest and contraction, nerve conduction studies
to test nerve impulses, MRIs to check for tumors or herniated discs,
blood and urine tests, spinal taps, and muscle biopsies.
Neurological exams are also performed to test reflexes, muscle strength
and tone, coordination, and balance, to determine the progression of the
disease.
(Mayo Clinic, 2014)

Fluid and Electrolytes

As dysphagia worsens, and it is harder to close mouth around a straw, dehydration
often becomes an issue.
Too little fluid intake leads to less volume of fluid in the extracellular compartment,
which leads to hypernatremia.
Sensory function is preserved as ALS is a motor disease so control of bladder and
bowel is maintained, however many people admit to cutting back on fluids to avoid
urinating as often, as they become more dependent on the help of another.
Complications of dehydration that are dangerous to patients with ALS include
constipation, which can eventually become a problem due to weakened abdominal
muscles, and thicker mucous secretions, which can lead to further dyspnea.
Thick-it is used to thicken liquids to make them easier to swallow and help prevent
aspiration. Metamucil is often given to prevent constipation. It is recommended to avoid
alcohol, and keep water and ice chips close by to encourage drinking. (Kasarkis,
2012).

Gas Exchange
As diaphragm and intercostal
muscles weaken, dyspnea worsens
and hypoventilation will lead to
buildup of carbon dioxide in the
blood, leading to respiratory
acidosis, which causes shortness of
breath, confusion, drowsiness, and
weight loss. (Hale & Hovey, 2014).
Noninvasive ventilation through a
mask can be used to help with night
breathing.
As the disease continues, the
respiratory muscles eventually fail,
causing death. (Armon, 2014).

Changes in Defense
Communicating needs: As speaking becomes more difficult,
it is harder to communicate needs, which can be dangerous
in situations of choking, and dyspnea.
Physical protection: As muscles weaken, movements are
slower and instinctive movements of protection are also
slower.
Although pressure ulcers are not usually a problem as
sensory function is not affected, they can become an issue
when a person can no longer reposition alone. Development
of pressure ulcers can lead to infections.

Treatments
Treatments are focused on slowing progression
and symptom relief.
Riluzole (Rilutek) is a glutamate inhibitor that
appears to slow progression by lowering
glutamate levels. It is believed to delay the need
for mechanical ventilation.
Breathing problems eventually require a
tracheostomy with respirator.
Medications are often given to provide relief for
symptoms like pain, muscle cramps and
spasms, spasticity, constipation, fatigue,
increased saliva and phlegm, depression, sleep
problems, and mood outbursts, such as
laughing and crying.
Currently trials for stem cell transplants are in
the phase of human testing.
(Mayo Clinic, 2014)

Stem cell transplant procedure (Mayo Clinic,

2014).

Therapies
Physical Therapy: Helps with mobility and maintaining muscle strength and
range of motion for as long as possible.
Occupation Therapy: Helps to maintain independence by modifying home with
adaptive equipment for activities of daily living.
Speech Therapy: Helps with adaptive techniques to be better understood, with
alphabet boards, or with tablets using text to speech.
Nutritionists: Helps to verify foods are easily swallowed and meeting nutritional
needs.
Psych/social: Provides emotional support, and helps obtain needed equipment.

(Mayo Clinic, 2014)

Outlook
ALS is a disease that currently cannot be reversed.
Death usually occurs within 3-5 years average, due
to respiratory failure, or choking.
(Copstead & Banasik, 2013)

References
Armon, C. (2014, May 2). Amyotrophic Lateral Sclerosis Clinical Presentation. Medscape. Retrieved
://emedicine.medscape.com/article/1170097-clinical.

from http

Copstead, L., & Banasik, J. (2013). Chronic Disorders of Neurologic Function. Pathophysiology (5th
St. Louis, Missouri: Saunders, an imprint of Elsevier.

ed., pp. 935).

Hale, A. & Hovey, M. J. (2014). Acid-Base Imbalances. Fluid, Electrolyte, and Acid-Base Imbalances (pp. 185).
Philadelphia, Pennsylvania: F.A. Davis Company.
Kasarskis, E. (2012, August). How to Avoid the Risks of Dehydration. ALS Association. Retrieved from http
://www.alsa.org/als-care/resources/als-insight/archive/august-2012.html.
Kids Health. (1995-2014). Lou Gehrigs Disease (ALS). Retrieved from http://
kidshealth.org/kid/grownup/conditions/als.html.

Mayo Clinic Staff. (2014, April 9). Amyotrophic lateral sclerosis. Mayo Clinic. Retrieved from http://
www.mayoclinic.org/diseases-conditions/amyotrophic-lateral sclerosis/basics/definition/con-20024397